Romain Nicolle

Paris, France

Last Updated: 09/26/2026

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Found 10 publications

Pulmonary hypertension in patients with Noonan syndrome.

Pulmonary hypertension in patients with Noonan syndrome.

Journal: The European respiratory journal

Published: August 27, 2025

Expanding PIGM-related disorders to coding mutations.

Expanding PIGM-related disorders to coding mutations.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: August 30, 2024

Clinical Outcomes of Isolated ACL Reconstruction Versus Combined ACL and ALL Reconstruction With Indication Guided by Intraoperative Ultrasound: A Propensity Score-Matched Study of 260 Patients With a Minimum 2-Year Follow-up.

Clinical Outcomes of Isolated ACL Reconstruction Versus Combined ACL and ALL Reconstruction With Indication Guided by Intraoperative Ultrasound: A Propensity Score-Matched Study of 260 Patients With a Minimum 2-Year Follow-up.

Journal: Orthopaedic journal of sports medicine

Published: May 04, 2024

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Journal: American journal of medical genetics. Part A

Published: October 14, 2023

Comparison Between Continuous and Separate Grafts for ALL Reconstruction When Combined With ACL Reconstruction: A Retrospective Cohort Study From the SANTI Study Group.

Comparison Between Continuous and Separate Grafts for ALL Reconstruction When Combined With ACL Reconstruction: A Retrospective Cohort Study From the SANTI Study Group.

Journal: The American journal of sports medicine

Published: September 13, 2023

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Journal: European journal of human genetics : EJHG

Published: September 03, 2023

First reports of fetal SMARCC1 related hydrocephalus.

First reports of fetal SMARCC1 related hydrocephalus.

Journal: European journal of medical genetics

Published: November 27, 2022

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

Journal: BMC medical genomics

Published: October 21, 2022

Lynch syndrome: influence of additional susceptibility variants on cancer risk.

Lynch syndrome: influence of additional susceptibility variants on cancer risk.

Journal: European journal of human genetics : EJHG

Published: October 12, 2022

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.

Journal: European journal of human genetics : EJHG

Published: May 20, 2021

Showing 1-10 of 10

Last Updated: 09/26/2026